pedigree and functional analysis of two cryptic otc variants causing ornithine transcarbamylase deficiency in two unrelated chinese male patients

Original title: “Pedigree and Functional Analysis of Two Cryptic OTC Variants Causing Ornithine Transcarbamylase Deficiency in Two Unrelated Chinese Male Patients.”

It is estimated that more than ... a clinical spectrum of disease severity. In the late-onset form of the disease, elevated ammonia can lead to significant medical issues for patients. Approved therapies, which must be taken multiple times a day for the patient's entire life, do not eliminate the risk of future metabolic crises. About Ultragenyx Ultragenyx is a biopharmaceutical company committed to bringing novel products to patients for the treatment of serious rare and ultra-rare ... It is estimated that more than 10,000 people are affected by OTC deficiency in commercially accessible geographies, of whom approximately 80% are classified as late-onset and represent a clinical spectrum of disease severity. In the late-onset form of the disease, elevated ammonia can lead to significant medical issues for patients. Approved therapies, which must be taken multiple times a day for the patient's entire life, do not eliminate the risk of future metabolic crises. About Ultragenyx Ultragenyx is a biopharmaceutical company committed to bringing novel products to patients for the treatment of serious rare and ultra-rare genetic diseases. Statistically significant improvements in primary endpoint of ammonia control compared with placebo at 36 weeks Clinically important changes observed in... (NASDAQ: RARE) announced positive results from its Phase 3 Enh3ance study of DTX301, an investigational AAV8 gene therapy for the treatment of ornithine transcarbamylase (OTC) deficiency. At Week 36 in the randomized, double-blind placebo-controlled period of the trial, DTX301-treated patients (n=18) demonstrated a statistically significant and clinically meaningful 18% (p=0.018) reduction in 24-hour plasma ammonia (AUC0-24) compared to placebo (n=19) and maintained average ammonia AUC0-24 in the normal range through Week 36. The company has built a diverse portfolio of approved therapies and product candidates aimed at addressing diseases with high unmet medical need and clear biology for treatment, for which there are typically no approved therapies treating the underlying disease. The company is led by a management team experienced in the development and commercialization of rare disease therapeutics.

Original title: “Ultragenyx Announces Positive 36-Week Data from Phase 3 Study of DTX301 AAV8 Gene Therapy for the Treatment of Ornithine Transcarbamylase (OTC) Deficiency”

Observed annually on the last day of February—most recently on February 28, 2026—Rare Disease Day serves as a vital global platform to raise awareness for the Current investigational work includes novel capsids optimized for intravitreal delivery, the use of different promoters to target specific retinal cell types, and dual‑vector strategies aimed at genes too large to fit into a single AAV genome. ... Inborn errors of metabolism are a natural fit for liver‑directed AAV therapy because many disease‑causing enzymes are normally produced in hepatocytes, and relatively modest levels of restored activity can be clinically meaningful. Ongoing trials are exploring AAV therapy for glycogen storage diseases, urea cycle disorders such as ornithine transcarbamylase deficiency, and disorders like phenylketonuria. Neurologic disease has become one of the most intensively targeted categories for AAV gene therapy. Many CNS disorders share three attractive features for this modality: they are often driven by a single gene defect, are relentlessly progressive, and currently lack curative options. As of late 2024–2025, the FDA has licensed multiple AAV vector-based gene therapies across at least six distinct disease areas: inherited retinal dystrophy (RPE65), spinal muscular atrophy (SMA), hemophilia A, hemophilia B, DMD, and AADC deficiency. Notably, some areas now benefit from more than one approved AAV product, such as hemophilia B and SMA (2). Table 1. Recent approved AAV gene therapies. ... Roctavian (valoctocogene roxaparvovec) from BioMarin treats hemophilia A, marked by low factor VIII. It gained EMA approval in 2022 and FDA in 2023 as the first for this disorder. Using AAV5, it carries a working F8 gene for factor VIII to the liver, where cells make the protein.

Original title: “PackGene's Advanced Capabilities in AAV Gene Therapy for Rare Diseases | PackGene Biotech”